Loeys-Dietz Syndrome 5 (LDS5)

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OMIM 57 615582 Disease Ontology 12 DOID:0070236 MedGen 42 C3810012 MeSH 44 D055947

KEGG 37 H01385 SNOMED-CT via HPO 69 263681008 396232000 248328003 63567004 87979003 18910001 27272007 13649004 72239002 194021007 22006008 246800008 11934000 18265008 399054005 399252000 204164000 391987005 205101001 302227002 424131007 425075004 77643000 62250003 405946002 205294008 230706003 274100004 298181000 267258002 276610007 253549006 30288003 48724000 204317008 60234000 249808002 397932003 203534009 53226007 84089009 405773007 225655006 396275006 274152003 237836003 202821008 more UMLS 73 C3810012

OMIM : ⁵⁷ Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see 609192), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (609192). (615582)

MalaCards based summary : Loeys-Dietz Syndrome 5, is also known as rienhoff syndrome. An important gene associated with Loeys-Dietz Syndrome 5 is TGFB3 (Transforming Growth Factor Beta 3), and among its related pathways/superpathways are MAPK signaling pathway and FoxO signaling pathway. Affiliated tissues include skin, eye and bone, and related phenotypes are hypertelorism and pectus excavatum

Disease Ontology : ¹² A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24.

UniProtKB/Swiss-Prot : ⁷⁵ Loeys-Dietz syndrome 5: A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection.

Clinical features from OMIM:

615582

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 5

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 5.